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  3. BCAP31
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Leukodystrophy - paediatric

Gene: BCAP31

Green List (high evidence)
BCAP31 (B-cell receptor associated protein 31)
EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

White matter changes are a feature of the condition.
Sources: Expert list
Created: 18 Jan 2020, 2:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, dystonia, and cerebral hypomyelination, 300475

Created: 18 Jan 2020, 2:44 a.m.

Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, dystonia, and cerebral hypomyelination, 300475
OMIM
300398
Clinvar variants
Variants in BCAP31
Penetrance
None
Panels with this gene

History Filter Activity

18 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bcap31 has been classified as Green List (High Evidence).

18 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BCAP31 was added gene: BCAP31 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BCAP31 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, 300475 Review for gene: BCAP31 was set to GREEN